NEONATAL BTD Screening
Quantitative fluorometric determination of biotinidase activity
from neonatal dried blood spots.
The NEONATAL BTD Screening Fluo is an enzymatic fluorescence assay for the quantitative determination of biotinidase activity in dried blood spots from newborns, for biotinidase deficiency screening.
Designed for professional use in screening laboratories. For in vitro diagnostic use only - not intended for self or confirmatory testing.
Regulatory Status: CE-IVDR
Format: 288/576 tests
Method: enzymatic fluorescence
Sample: DBS (903®/226 paper) - 3.2 mm punch
Storage: 2-8°C
Automation: Manual or automated
Turn around time: 4.5h
General information
Advantages
Compatible instruments & related kits
BTD is extracted from filter paper using a special buffer containing biotinyl-6-aminoquinoline (B-6-AQ). In the process, BTD converts B-6-AQ into biotin and 6-aminoquinoline (6-AQ). The 6-AQ naturally fluorescence is directly linked to the BTD activity in the sample.
Test principle
Biotinidase deficiency is an autosomal-recessive metabolic disorder in which the enzyme that recycles biotin (vitamin B7) is lacking. Left untreated, it can cause seizures, hypotonia, developmental delay, hearing and vision loss, skin rash and hair loss. Identified early, it is managed simply and effectively with lifelong oral biotin - making it one of the most rewarding conditions in newborn screening. Low screening results are not diagnostic on their own and require confirmatory testing.
Disease
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